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BabyScreen+ newborn screening

Gene: AGL

Green List (high evidence)

AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IIIa and IIIb, MIM# 232400

Publications

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

presents in childhood

From Rx-genes:
Disease Name Glycogen storage disease III

Current Treatment high-fat, high-protein and low-carbohydrate diet with cornstarch supplementation

Evidence for Treatment guideline
Guideline reference 1 pubmed.ncbi.nlm.nih.gov/20631546/
Guideline reference 2 pubmed.ncbi.nlm.nih.gov/27106217/
Reference 1 www.ncbi.nlm.nih.gov/books/NBK26372/#gsd3.Summary
Reference 2 www.sciencedirect.com/science/article/pii/S2214426922000647
Created: 26 Sep 2022, 7:26 a.m. | Last Modified: 26 Sep 2022, 7:26 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Glycogen storage disease IIIa, MIM#232400
Tags
treatable metabolic
OMIM
610860
Clinvar variants
Variants in AGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Nov 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AGL. Tag metabolic tag was added to gene: AGL.

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agl has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AGL were set to

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGL was added gene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400